Mutagenetix > Incidental Mutation

Incidental Mutation 'R5147:Pkd1l1'

395164

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l1

Ensembl Gene

ENSMUSG00000046634

Gene Name

polycystic kidney disease 1 like 1

Synonyms

MMRRC Submission

042731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8782025-8924365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8799003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1803 (T1803I)

Ref Sequence

ENSEMBL: ENSMUSP00000136518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178195]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154153
AA Change: T2253I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120803
Gene: ENSMUSG00000046634
AA Change: T2253I

Domain	Start	End	E-Value	Type
low complexity region	172	184	N/A	INTRINSIC
PKD	205	287	2.9e0	SMART
PKD	291	369	1.42e-9	SMART
Pfam:REJ	398	1001	1.7e-45	PFAM
low complexity region	1208	1218	N/A	INTRINSIC
GPS	1370	1413	1.21e-1	SMART
transmembrane domain	1434	1451	N/A	INTRINSIC
LH2	1479	1598	2.94e-3	SMART
transmembrane domain	1640	1659	N/A	INTRINSIC
transmembrane domain	1679	1701	N/A	INTRINSIC
transmembrane domain	1817	1839	N/A	INTRINSIC
transmembrane domain	1854	1876	N/A	INTRINSIC
Pfam:PKD_channel	2109	2339	1.5e-23	PFAM
transmembrane domain	2381	2403	N/A	INTRINSIC
low complexity region	2436	2449	N/A	INTRINSIC
low complexity region	2458	2469	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155886

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178195
AA Change: T1803I

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136518
Gene: ENSMUSG00000046634
AA Change: T1803I

Domain	Start	End	E-Value	Type
Pfam:REJ	3	552	3.3e-41	PFAM
low complexity region	757	767	N/A	INTRINSIC
Blast:GPS	919	965	2e-13	BLAST
transmembrane domain	983	1000	N/A	INTRINSIC
Pfam:PLAT	1030	1145	7.2e-14	PFAM
transmembrane domain	1189	1208	N/A	INTRINSIC
transmembrane domain	1228	1250	N/A	INTRINSIC
transmembrane domain	1366	1388	N/A	INTRINSIC
transmembrane domain	1403	1425	N/A	INTRINSIC
Pfam:PKD_channel	1658	1889	2e-25	PFAM
transmembrane domain	1930	1952	N/A	INTRINSIC
low complexity region	1985	1998	N/A	INTRINSIC
low complexity region	2007	2018	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,851,149 (GRCm39)	Y2121H	probably benign	Het
Adgrf2	A	G	17: 43,021,574 (GRCm39)	Y417H	probably damaging	Het
Ap5z1	A	C	5: 142,452,265 (GRCm39)	D66A	probably benign	Het
Cachd1	T	A	4: 100,821,688 (GRCm39)	Y422N	probably damaging	Het
Cfap54	C	T	10: 92,773,700 (GRCm39)	G114D	probably benign	Het
Cgref1	C	T	5: 31,091,049 (GRCm39)	G255E	probably benign	Het
Cyp2a22	A	C	7: 26,635,750 (GRCm39)	L271R	probably damaging	Het
Dcp2	G	T	18: 44,550,662 (GRCm39)	E379*	probably null	Het
Fhl3	T	A	4: 124,601,724 (GRCm39)	D277E	probably benign	Het
Gm19684	C	T	17: 36,439,411 (GRCm39)	V190M	probably damaging	Het
Hpse	T	C	5: 100,867,375 (GRCm39)	D29G	probably benign	Het
Il31	T	C	5: 123,620,121 (GRCm39)		probably benign	Het
Ilk	T	C	7: 105,391,774 (GRCm39)	C422R	possibly damaging	Het
Itga1	T	G	13: 115,121,678 (GRCm39)	D777A	possibly damaging	Het
Kank3	A	G	17: 34,041,176 (GRCm39)	D556G	probably damaging	Het
Lrit3	A	G	3: 129,597,574 (GRCm39)	S36P	possibly damaging	Het
Magi1	C	T	6: 93,724,248 (GRCm39)	E256K	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Mymk	C	T	2: 26,952,299 (GRCm39)	M148I	probably benign	Het
Nlrp12	T	A	7: 3,290,003 (GRCm39)	I170F	possibly damaging	Het
Odad3	T	C	9: 21,906,158 (GRCm39)	E260G	probably benign	Het
Or5al7	A	T	2: 85,992,378 (GRCm39)	I305K	possibly damaging	Het
Or5an11	T	A	19: 12,246,268 (GRCm39)	S225T	probably damaging	Het
Ppp2r2b	C	T	18: 42,778,942 (GRCm39)	V398I	probably benign	Het
Ppp2r5e	T	A	12: 75,516,544 (GRCm39)	R214S	probably damaging	Het
Prss16	T	C	13: 22,190,264 (GRCm39)	D298G	possibly damaging	Het
Qprt	G	A	7: 126,707,622 (GRCm39)	R189W	probably damaging	Het
Rara	C	T	11: 98,841,550 (GRCm39)	S36F	probably benign	Het
Rasal2	A	G	1: 157,003,264 (GRCm39)	V465A	probably damaging	Het
Slc22a1	C	T	17: 12,869,838 (GRCm39)	G508R	probably damaging	Het
Slco2a1	C	A	9: 102,927,468 (GRCm39)	F120L	probably damaging	Het
Tex15	T	A	8: 34,062,340 (GRCm39)	L864*	probably null	Het
Tssk4	A	G	14: 55,888,430 (GRCm39)	I100V	possibly damaging	Het
Vgll4	A	G	6: 114,867,576 (GRCm39)		probably null	Het
Vmn1r65	T	G	7: 6,011,818 (GRCm39)	I139L	probably benign	Het
Vps13b	C	T	15: 35,456,824 (GRCm39)	P757S	probably benign	Het
Ythdc2	G	A	18: 44,977,359 (GRCm39)	G385E	probably damaging	Het

Other mutations in Pkd1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Pkd1l1	APN	11	8,911,971 (GRCm39)	missense	unknown
IGL00156:Pkd1l1	APN	11	8,900,515 (GRCm39)	missense	probably damaging	1.00
IGL00161:Pkd1l1	APN	11	8,879,353 (GRCm39)	critical splice donor site	probably null
IGL00489:Pkd1l1	APN	11	8,784,773 (GRCm39)	critical splice donor site	probably null
IGL00495:Pkd1l1	APN	11	8,818,493 (GRCm39)	missense	probably benign	0.34
IGL00983:Pkd1l1	APN	11	8,794,585 (GRCm39)	missense	probably benign
IGL01071:Pkd1l1	APN	11	8,798,921 (GRCm39)	missense	probably benign	0.00
IGL01093:Pkd1l1	APN	11	8,851,345 (GRCm39)	missense	probably benign	0.06
IGL01295:Pkd1l1	APN	11	8,883,685 (GRCm39)	missense	possibly damaging	0.93
IGL01311:Pkd1l1	APN	11	8,851,174 (GRCm39)	missense	possibly damaging	0.53
IGL01412:Pkd1l1	APN	11	8,900,409 (GRCm39)	missense	possibly damaging	0.73
IGL01978:Pkd1l1	APN	11	8,911,336 (GRCm39)	missense	unknown
IGL01999:Pkd1l1	APN	11	8,786,291 (GRCm39)	missense	probably benign
IGL02080:Pkd1l1	APN	11	8,911,345 (GRCm39)	missense	unknown
IGL02106:Pkd1l1	APN	11	8,783,800 (GRCm39)	missense	probably damaging	1.00
IGL02216:Pkd1l1	APN	11	8,784,897 (GRCm39)	missense	probably damaging	0.96
IGL02305:Pkd1l1	APN	11	8,852,467 (GRCm39)	missense	probably benign
IGL02337:Pkd1l1	APN	11	8,892,079 (GRCm39)	missense	probably damaging	1.00
IGL02576:Pkd1l1	APN	11	8,794,560 (GRCm39)	missense	possibly damaging	0.61
IGL02704:Pkd1l1	APN	11	8,784,910 (GRCm39)	missense	probably benign	0.00
IGL02814:Pkd1l1	APN	11	8,852,582 (GRCm39)	missense	probably benign	0.01
IGL02904:Pkd1l1	APN	11	8,818,450 (GRCm39)	splice site	probably benign
IGL02972:Pkd1l1	APN	11	8,813,908 (GRCm39)	missense	probably damaging	0.99
IGL03091:Pkd1l1	APN	11	8,805,564 (GRCm39)	missense	probably damaging	1.00
IGL03113:Pkd1l1	APN	11	8,784,793 (GRCm39)	missense	probably benign	0.20
IGL03210:Pkd1l1	APN	11	8,915,127 (GRCm39)	missense	unknown
PIT4581001:Pkd1l1	UTSW	11	8,866,298 (GRCm39)	frame shift	probably null
R0020:Pkd1l1	UTSW	11	8,825,765 (GRCm39)	splice site	probably benign
R0020:Pkd1l1	UTSW	11	8,825,765 (GRCm39)	splice site	probably benign
R0496:Pkd1l1	UTSW	11	8,879,430 (GRCm39)	missense	probably damaging	0.96
R0547:Pkd1l1	UTSW	11	8,786,448 (GRCm39)	splice site	probably benign
R0582:Pkd1l1	UTSW	11	8,881,699 (GRCm39)	splice site	probably benign
R0761:Pkd1l1	UTSW	11	8,804,375 (GRCm39)	missense	probably damaging	1.00
R0969:Pkd1l1	UTSW	11	8,886,898 (GRCm39)	missense	probably damaging	1.00
R1348:Pkd1l1	UTSW	11	8,784,806 (GRCm39)	missense	probably benign	0.18
R1366:Pkd1l1	UTSW	11	8,891,038 (GRCm39)	splice site	probably benign
R1401:Pkd1l1	UTSW	11	8,804,487 (GRCm39)	nonsense	probably null
R1444:Pkd1l1	UTSW	11	8,804,386 (GRCm39)	missense	probably damaging	1.00
R1445:Pkd1l1	UTSW	11	8,820,313 (GRCm39)	missense	probably benign	0.00
R1463:Pkd1l1	UTSW	11	8,866,302 (GRCm39)	missense	probably damaging	1.00
R1496:Pkd1l1	UTSW	11	8,891,077 (GRCm39)	missense	possibly damaging	0.95
R1542:Pkd1l1	UTSW	11	8,824,179 (GRCm39)	missense	possibly damaging	0.82
R1543:Pkd1l1	UTSW	11	8,851,200 (GRCm39)	missense	probably damaging	1.00
R1619:Pkd1l1	UTSW	11	8,900,413 (GRCm39)	missense	probably damaging	0.98
R1875:Pkd1l1	UTSW	11	8,794,670 (GRCm39)	splice site	probably benign
R1929:Pkd1l1	UTSW	11	8,786,197 (GRCm39)	splice site	probably benign
R1958:Pkd1l1	UTSW	11	8,824,161 (GRCm39)	missense	probably benign	0.01
R2223:Pkd1l1	UTSW	11	8,900,422 (GRCm39)	missense	probably benign
R2223:Pkd1l1	UTSW	11	8,839,063 (GRCm39)	missense	probably benign	0.18
R2264:Pkd1l1	UTSW	11	8,829,112 (GRCm39)	missense	probably damaging	0.97
R2349:Pkd1l1	UTSW	11	8,776,819 (GRCm39)	splice site	probably null
R2431:Pkd1l1	UTSW	11	8,897,197 (GRCm39)	missense	probably damaging	0.99
R2483:Pkd1l1	UTSW	11	8,912,701 (GRCm39)	missense	probably damaging	1.00
R2517:Pkd1l1	UTSW	11	8,908,900 (GRCm39)	missense	unknown
R2888:Pkd1l1	UTSW	11	8,897,251 (GRCm39)	missense	probably damaging	1.00
R2965:Pkd1l1	UTSW	11	8,824,236 (GRCm39)	missense	probably damaging	1.00
R3123:Pkd1l1	UTSW	11	8,923,021 (GRCm39)	missense	unknown
R3153:Pkd1l1	UTSW	11	8,817,207 (GRCm39)	missense	probably benign	0.01
R3840:Pkd1l1	UTSW	11	8,839,050 (GRCm39)	missense	probably damaging	1.00
R3855:Pkd1l1	UTSW	11	8,915,047 (GRCm39)	critical splice donor site	probably null
R3880:Pkd1l1	UTSW	11	8,911,983 (GRCm39)	missense	unknown
R3970:Pkd1l1	UTSW	11	8,824,218 (GRCm39)	missense	probably damaging	1.00
R4195:Pkd1l1	UTSW	11	8,859,929 (GRCm39)	missense	probably damaging	1.00
R4196:Pkd1l1	UTSW	11	8,859,929 (GRCm39)	missense	probably damaging	1.00
R4246:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4247:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4249:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4250:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4593:Pkd1l1	UTSW	11	8,851,253 (GRCm39)	missense	probably damaging	0.97
R4609:Pkd1l1	UTSW	11	8,908,964 (GRCm39)	missense	unknown
R4797:Pkd1l1	UTSW	11	8,911,340 (GRCm39)	missense	unknown
R4910:Pkd1l1	UTSW	11	8,879,360 (GRCm39)	missense	possibly damaging	0.50
R4940:Pkd1l1	UTSW	11	8,794,585 (GRCm39)	missense	probably benign
R5084:Pkd1l1	UTSW	11	8,892,004 (GRCm39)	missense	probably benign	0.05
R5360:Pkd1l1	UTSW	11	8,829,204 (GRCm39)	missense	probably benign
R5483:Pkd1l1	UTSW	11	8,851,141 (GRCm39)	critical splice donor site	probably null
R5604:Pkd1l1	UTSW	11	8,783,877 (GRCm39)	missense	probably damaging	0.98
R5642:Pkd1l1	UTSW	11	8,829,202 (GRCm39)	missense	probably damaging	1.00
R5652:Pkd1l1	UTSW	11	8,859,889 (GRCm39)	missense	probably benign	0.03
R5751:Pkd1l1	UTSW	11	8,817,204 (GRCm39)	missense	possibly damaging	0.45
R5761:Pkd1l1	UTSW	11	8,866,301 (GRCm39)	missense	probably damaging	1.00
R5800:Pkd1l1	UTSW	11	8,811,302 (GRCm39)	missense	probably benign
R5874:Pkd1l1	UTSW	11	8,858,688 (GRCm39)	missense	probably damaging	1.00
R5897:Pkd1l1	UTSW	11	8,829,176 (GRCm39)	missense	probably benign	0.03
R5913:Pkd1l1	UTSW	11	8,813,849 (GRCm39)	missense	probably benign	0.00
R5930:Pkd1l1	UTSW	11	8,908,969 (GRCm39)	missense	unknown
R6000:Pkd1l1	UTSW	11	8,900,427 (GRCm39)	missense	probably benign	0.00
R6005:Pkd1l1	UTSW	11	8,807,113 (GRCm39)	missense	probably damaging	1.00
R6013:Pkd1l1	UTSW	11	8,819,452 (GRCm39)	splice site	probably null
R6027:Pkd1l1	UTSW	11	8,866,272 (GRCm39)	nonsense	probably null
R6028:Pkd1l1	UTSW	11	8,786,267 (GRCm39)	missense	probably benign	0.06
R6129:Pkd1l1	UTSW	11	8,818,543 (GRCm39)	missense	probably benign	0.00
R6182:Pkd1l1	UTSW	11	8,815,555 (GRCm39)	missense	probably benign	0.36
R6226:Pkd1l1	UTSW	11	8,851,287 (GRCm39)	missense	probably benign	0.00
R6257:Pkd1l1	UTSW	11	8,892,195 (GRCm39)	missense	probably benign	0.22
R6340:Pkd1l1	UTSW	11	8,794,649 (GRCm39)	missense	probably benign	0.09
R6478:Pkd1l1	UTSW	11	8,813,911 (GRCm39)	missense	probably benign	0.00
R6558:Pkd1l1	UTSW	11	8,839,052 (GRCm39)	missense	probably benign	0.00
R6750:Pkd1l1	UTSW	11	8,923,217 (GRCm39)	missense	unknown
R6987:Pkd1l1	UTSW	11	8,852,575 (GRCm39)	missense	probably benign	0.01
R6996:Pkd1l1	UTSW	11	8,799,046 (GRCm39)	missense	probably damaging	1.00
R7139:Pkd1l1	UTSW	11	8,840,737 (GRCm39)	missense
R7224:Pkd1l1	UTSW	11	8,895,241 (GRCm39)	missense
R7244:Pkd1l1	UTSW	11	8,821,771 (GRCm39)	missense
R7265:Pkd1l1	UTSW	11	8,879,402 (GRCm39)	missense
R7358:Pkd1l1	UTSW	11	8,895,202 (GRCm39)	missense
R7387:Pkd1l1	UTSW	11	8,851,203 (GRCm39)	missense
R7414:Pkd1l1	UTSW	11	8,866,267 (GRCm39)	missense
R7459:Pkd1l1	UTSW	11	8,852,428 (GRCm39)	missense
R7478:Pkd1l1	UTSW	11	8,879,441 (GRCm39)	missense
R7485:Pkd1l1	UTSW	11	8,915,148 (GRCm39)	missense
R7490:Pkd1l1	UTSW	11	8,866,265 (GRCm39)	missense
R7644:Pkd1l1	UTSW	11	8,825,758 (GRCm39)	missense
R7647:Pkd1l1	UTSW	11	8,897,296 (GRCm39)	missense
R7676:Pkd1l1	UTSW	11	8,912,708 (GRCm39)	missense
R7687:Pkd1l1	UTSW	11	8,804,390 (GRCm39)	missense
R7699:Pkd1l1	UTSW	11	8,915,142 (GRCm39)	missense
R7922:Pkd1l1	UTSW	11	8,859,857 (GRCm39)	missense
R7922:Pkd1l1	UTSW	11	8,799,013 (GRCm39)	missense
R7980:Pkd1l1	UTSW	11	8,804,375 (GRCm39)	missense	probably damaging	1.00
R7993:Pkd1l1	UTSW	11	8,895,262 (GRCm39)	missense
R8052:Pkd1l1	UTSW	11	8,897,315 (GRCm39)	missense
R8125:Pkd1l1	UTSW	11	8,897,241 (GRCm39)	missense	probably damaging	1.00
R8420:Pkd1l1	UTSW	11	8,820,277 (GRCm39)	nonsense	probably null
R8675:Pkd1l1	UTSW	11	8,798,916 (GRCm39)	critical splice donor site	probably null
R8683:Pkd1l1	UTSW	11	8,821,805 (GRCm39)	missense
R8709:Pkd1l1	UTSW	11	8,805,567 (GRCm39)	missense
R8711:Pkd1l1	UTSW	11	8,815,550 (GRCm39)	missense
R8725:Pkd1l1	UTSW	11	8,911,482 (GRCm39)	missense
R8733:Pkd1l1	UTSW	11	8,883,657 (GRCm39)	missense
R8822:Pkd1l1	UTSW	11	8,806,312 (GRCm39)	missense
R8871:Pkd1l1	UTSW	11	8,900,503 (GRCm39)	missense
R9009:Pkd1l1	UTSW	11	8,881,552 (GRCm39)	missense
R9099:Pkd1l1	UTSW	11	8,922,986 (GRCm39)	missense
R9119:Pkd1l1	UTSW	11	8,829,107 (GRCm39)	missense
R9150:Pkd1l1	UTSW	11	8,786,256 (GRCm39)	missense
R9314:Pkd1l1	UTSW	11	8,829,153 (GRCm39)	missense
R9341:Pkd1l1	UTSW	11	8,911,305 (GRCm39)	missense
R9341:Pkd1l1	UTSW	11	8,786,399 (GRCm39)	missense
R9343:Pkd1l1	UTSW	11	8,911,305 (GRCm39)	missense
R9343:Pkd1l1	UTSW	11	8,786,399 (GRCm39)	missense
R9392:Pkd1l1	UTSW	11	8,794,567 (GRCm39)	missense
R9424:Pkd1l1	UTSW	11	8,820,091 (GRCm39)	missense
R9496:Pkd1l1	UTSW	11	8,783,773 (GRCm39)	critical splice donor site	probably null
R9504:Pkd1l1	UTSW	11	8,815,631 (GRCm39)	missense
R9563:Pkd1l1	UTSW	11	8,815,502 (GRCm39)	missense
R9570:Pkd1l1	UTSW	11	8,840,697 (GRCm39)	missense
R9585:Pkd1l1	UTSW	11	8,804,390 (GRCm39)	missense
R9618:Pkd1l1	UTSW	11	8,911,420 (GRCm39)	missense
R9709:Pkd1l1	UTSW	11	8,799,016 (GRCm39)	missense	probably damaging	0.98
R9741:Pkd1l1	UTSW	11	8,897,224 (GRCm39)	missense
R9801:Pkd1l1	UTSW	11	8,908,964 (GRCm39)	nonsense	probably null
X0024:Pkd1l1	UTSW	11	8,900,413 (GRCm39)	missense	probably benign	0.01
X0063:Pkd1l1	UTSW	11	8,879,430 (GRCm39)	missense	probably damaging	0.96
X0065:Pkd1l1	UTSW	11	8,859,921 (GRCm39)	missense	probably benign	0.10
Z1176:Pkd1l1	UTSW	11	8,776,801 (GRCm39)	missense
Z1177:Pkd1l1	UTSW	11	8,895,208 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ACTCTCAGTACCACTGTCTGTG -3'
(R):5'- TGAGTCGTCTCCTCAACCAC -3'

Sequencing Primer
(F):5'- TTCTACAGAACACATTCATCACCTTG -3'
(R):5'- CCAACTTCATGTTTGACAGTCAAC -3'

Posted On

2016-06-21